Incidental Mutation 'IGL01912:Vmn1r54'
| ID |
179831 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r54
|
| Ensembl Gene |
ENSMUSG00000047203 |
| Gene Name |
vomeronasal 1 receptor 54 |
| Synonyms |
V1ra9, VN7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL01912
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
90246088-90247035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90246442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 119
(S119P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058039]
[ENSMUST00000226921]
|
| AlphaFold |
Q9EPB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058039
AA Change: S119P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063052
Gene: ENSMUSG00000047203
AA Change: S119P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
11 |
307 |
1.2e-11 |
PFAM |
|
Pfam:V1R
|
38 |
301 |
5.5e-94 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226921
AA Change: S119P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
T |
7: 45,769,934 (GRCm39) |
D860E |
probably damaging |
Het |
| Actl11 |
C |
A |
9: 107,806,844 (GRCm39) |
P389Q |
probably damaging |
Het |
| Bsg |
G |
T |
10: 79,545,974 (GRCm39) |
G103W |
probably null |
Het |
| Camk2d |
T |
A |
3: 126,604,281 (GRCm39) |
|
probably null |
Het |
| Clcn7 |
T |
C |
17: 25,371,983 (GRCm39) |
|
probably benign |
Het |
| Dctd |
C |
T |
8: 48,564,697 (GRCm39) |
|
probably benign |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Esyt2 |
T |
C |
12: 116,303,229 (GRCm39) |
I289T |
probably damaging |
Het |
| Exoc6b |
A |
C |
6: 84,602,156 (GRCm39) |
C753G |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm3633 |
T |
C |
14: 42,462,743 (GRCm39) |
|
probably benign |
Het |
| Hrh3 |
A |
T |
2: 179,743,169 (GRCm39) |
V153D |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,772,286 (GRCm39) |
|
probably benign |
Het |
| Nat3 |
T |
A |
8: 68,000,398 (GRCm39) |
C92* |
probably null |
Het |
| Nckap1l |
T |
A |
15: 103,382,573 (GRCm39) |
L525M |
probably benign |
Het |
| Nrp2 |
T |
A |
1: 62,810,896 (GRCm39) |
C646S |
probably damaging |
Het |
| Or10a3m |
T |
C |
7: 108,313,465 (GRCm39) |
Y290H |
possibly damaging |
Het |
| Or2ag16 |
T |
A |
7: 106,352,199 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or52n20 |
T |
C |
7: 104,320,440 (GRCm39) |
I177T |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,447,941 (GRCm39) |
Y63H |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,400,466 (GRCm39) |
V1059A |
probably benign |
Het |
| Ptprm |
A |
G |
17: 67,353,113 (GRCm39) |
V235A |
probably benign |
Het |
| Rab3ip |
G |
T |
10: 116,742,997 (GRCm39) |
Q443K |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,926,977 (GRCm39) |
D850Y |
probably damaging |
Het |
| Ubxn2b |
T |
A |
4: 6,203,767 (GRCm39) |
|
probably null |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,467 (GRCm39) |
Y161F |
probably benign |
Het |
|
| Other mutations in Vmn1r54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02421:Vmn1r54
|
APN |
6 |
90,246,133 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02535:Vmn1r54
|
APN |
6 |
90,246,260 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03083:Vmn1r54
|
APN |
6 |
90,246,854 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0646:Vmn1r54
|
UTSW |
6 |
90,246,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2047:Vmn1r54
|
UTSW |
6 |
90,246,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Vmn1r54
|
UTSW |
6 |
90,246,864 (GRCm39) |
nonsense |
probably null |
|
|
R4467:Vmn1r54
|
UTSW |
6 |
90,246,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Vmn1r54
|
UTSW |
6 |
90,246,307 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5042:Vmn1r54
|
UTSW |
6 |
90,246,422 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5555:Vmn1r54
|
UTSW |
6 |
90,246,347 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6183:Vmn1r54
|
UTSW |
6 |
90,246,272 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6393:Vmn1r54
|
UTSW |
6 |
90,246,304 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7216:Vmn1r54
|
UTSW |
6 |
90,246,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Vmn1r54
|
UTSW |
6 |
90,246,160 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8413:Vmn1r54
|
UTSW |
6 |
90,246,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Vmn1r54
|
UTSW |
6 |
90,246,668 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9055:Vmn1r54
|
UTSW |
6 |
90,246,100 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9383:Vmn1r54
|
UTSW |
6 |
90,247,009 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9406:Vmn1r54
|
UTSW |
6 |
90,246,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9657:Vmn1r54
|
UTSW |
6 |
90,246,984 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-05-07 |
Incidental Mutation